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Degenerative Intellectual & Developmental Disabilities

Case History of a Novel Treatment Approach for Congenital Cardiomyopathy due to Carnitine Transporter Deficiency

Submission: September 26, 2017;Published: December 19, 2017

Volume1 Issue1
December 2017


This is a case study of a novel experimental therapy approach in a rare treatment non-responsive potentially fatal Carnitine Transporter Deficiency Congenital Cardiomyopathy. The child’s LVEF was down to about 24% at presentation. As a last resort, we tried out a new multidisciplinary therapy approach. It restored his treatment response and raised his LVEF to a persistent level of 80 to 84% as followed up for last two years. Three of his similarly affected siblings: two brothers and one sister, had earlier succumbed in spite of optimum Levo-Carnitine supplement (the only approved treatment) as provided by one of the most prestigious Medical Institutes of his country.

Keywords: Cardiomyopathy; Carnitine deficiency; Fatty acid transporter; Hyperbaric oxygen therapy

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